SMA Exon7_8 Deletion Detection Kit, SMA-Ex 7/8 RT 1.1

For in vitro diagnostic use. Intended for professional use only.

Spinal Muscular Atrophy (SMA) is an autosomal recessive lower motor neuron disease characterized clinically by the degeneration of anterior horn cells in the spinal cord and progressive weakness and atrophy in proximal muscles.

The SMN1 gene responsible for SMA is located on chromosome 5. Homozygous deletions in exons 7-8 of the SMN1 gene are found in approximately 95-98% of patients with SMA. Carrier frequency can vary between 1/20 and 1/60. The copy number of the SMN2 gene determines the severity of the disease. The SMA Exon7_8 Deletion Detection Kit is used to detect deletions in exons 7 and 8 of the SMN1 gene.

FEATURES

Use of dual-labeled probes (FAM) specific to Exons 7 and 8 regions of the SMN1 gene, as well as a reference region, with specific primers for each region
Amplification of an endogenous control gene
Real-time amplification with probe sets specific to the FAM-labeled sequence
CE-IVD certified

DATA INTERPRETATION

Figure 1: SMN1 Exon7 and 8 test results. The amplification curves for SMN1 Exon7 and 8 of samples with different SMN1 genotypes can be observed in the left panel. The amplification curve for the reference is visible in the right panel.

ORDER INFORMATION

CATALOG NO	06010025- SMA Exon7_8 Deletion Detection Kit, SMA-Ex7/8 RT 1.1 (25 Tests)
	06010050- SMA Exon7_8 Deletion Detection Kit, SMA-Ex7/8 RT 1.1 (50Tests)
	06010100- SMA Exon7_8 Deletion Detection Kit, SMA-Ex7/8 RT 1.1 (100 Tests)
SAMPLE TYPE	Blood, Amniotic fluid
TEST CONTENT	SMN1 Exon 7 Master Mix, SMN1 Exon 8 Master Mix, Control DNA, ddH2O
TARGET GENE and LOCI	Exon-7 c.840 C>T Exon 8 c.239 G>A
STORAGE CONDITIONS and SHELF LIFE	It should be stored at -20°C and in the dark. Shelf life is 12 months.
COMPATIBLE DEVICES	It is compatible with all 4-channel qPCR devices